Literature DB >> 18804971

[Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].

A M Kaindl1, U-P Guenther, S Rudnik-Schöneborn, R Varon, K Zerres, P Gressens, M Schuelke, C Hubner, K von Au.   

Abstract

In this article, we review the clinical, neuropathological and genetic aspects of distal spinal-muscular atrophy 1 (DSMA1; MIM#604320), formerly designated as autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) and also known as distal hereditary-motor neuropathy type 6 (dHMN6 or HMN6).

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Mesh：

Year:  2008        PMID： 18804971     DOI： 10.1016/j.arcped.2008.07.014

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN： 0929-693X            Impact factor:   1.180


  3 in total

1.  Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent.

Authors:  Monir Shababi; Zhihua Feng; Eric Villalon; Christine M Sibigtroth; Erkan Y Osman; Madeline R Miller; Patricka A Williams-Simon; Abby Lombardi; Thalia H Sass; Arleigh K Atkinson; Michael L Garcia; Chien-Ping Ko; Christian L Lorson
Journal:  Mol Ther       Date:  2016-02-10       Impact factor: 11.454

2.  Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Authors:  Ellen Cottenie; Andrzej Kochanski; Albena Jordanova; Boglarka Bansagi; Magdalena Zimon; Alejandro Horga; Zane Jaunmuktane; Paola Saveri; Vedrana Milic Rasic; Jonathan Baets; Marina Bartsakoulia; Rafal Ploski; Pawel Teterycz; Milos Nikolic; Ros Quinlivan; Matilde Laura; Mary G Sweeney; Franco Taroni; Michael P Lunn; Isabella Moroni; Michael Gonzalez; Michael G Hanna; Conceicao Bettencourt; Elodie Chabrol; Andre Franke; Katja von Au; Markus Schilhabel; Dagmara Kabzińska; Irena Hausmanowa-Petrusewicz; Sebastian Brandner; Siew Choo Lim; Haiwei Song; Byung-Ok Choi; Rita Horvath; Ki-Wha Chung; Stephan Zuchner; Davide Pareyson; Matthew Harms; Mary M Reilly; Henry Houlden
Journal:  Am J Hum Genet       Date:  2014-10-30       Impact factor: 11.025

3.  Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.

Authors:  Beatriz San Millan; Jose M Fernandez; Carmen Navarro; Alfredo Reparaz; Susana Teijeira
Journal:  Clin Neuropathol       Date:  2016 Mar-Apr       Impact factor: 1.368
  3 in total

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